Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q13216

- ERCC8_HUMAN

UniProt

Q13216 - ERCC8_HUMAN

Protein

DNA excision repair protein ERCC-8

Gene

ERCC8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesions from the transcribed strand of active genes.3 Publications

    Pathwayi

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. protein complex binding Source: UniProtKB

    GO - Biological processi

    1. cellular response to DNA damage stimulus Source: UniProtKB
    2. DNA repair Source: Reactome
    3. nucleotide-excision repair Source: UniProtKB
    4. positive regulation of DNA repair Source: UniProtKB
    5. proteasome-mediated ubiquitin-dependent protein catabolic process Source: UniProtKB
    6. protein autoubiquitination Source: UniProtKB
    7. protein polyubiquitination Source: UniProtKB
    8. response to oxidative stress Source: UniProtKB
    9. response to UV Source: UniProtKB
    10. response to X-ray Source: Ensembl
    11. transcription-coupled nucleotide-excision repair Source: UniProtKB

    Keywords - Biological processi

    DNA damage, DNA repair, Ubl conjugation pathway

    Enzyme and pathway databases

    ReactomeiREACT_1941. Formation of transcription-coupled NER (TC-NER) repair complex.
    REACT_2222. Dual incision reaction in TC-NER.
    SignaLinkiQ13216.
    UniPathwayiUPA00143.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DNA excision repair protein ERCC-8
    Alternative name(s):
    Cockayne syndrome WD repeat protein CSA
    Gene namesi
    Name:ERCC8
    Synonyms:CKN1, CSA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:3439. ERCC8.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. Cul4A-RING E3 ubiquitin ligase complex Source: UniProtKB
    2. nuclear matrix Source: MGI
    3. nucleoplasm Source: Reactome
    4. nucleotide-excision repair complex Source: MGI
    5. nucleus Source: MGI
    6. protein complex Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Cockayne syndrome A (CSA) [MIM:216400]: A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti160 – 1601A → T in CSA. 1 Publication
    Corresponds to variant rs281875222 [ dbSNP | Ensembl ].
    VAR_063507
    Natural varianti160 – 1601A → V in CSA. 1 Publication
    Corresponds to variant rs121434325 [ dbSNP | Ensembl ].
    VAR_025380
    Natural varianti194 – 1941W → C in CSA. 1 Publication
    Corresponds to variant rs281875223 [ dbSNP | Ensembl ].
    VAR_063508
    Natural varianti202 – 2021L → S in CSA. 1 Publication
    Corresponds to variant rs281875224 [ dbSNP | Ensembl ].
    VAR_063509
    Natural varianti205 – 2051A → P in CSA. 1 Publication
    Corresponds to variant rs121434326 [ dbSNP | Ensembl ].
    VAR_025381
    Natural varianti266 – 2661D → G in CSA. 1 Publication
    Corresponds to variant rs281875225 [ dbSNP | Ensembl ].
    VAR_063510
    UV-sensitive syndrome 2 (UVSS2) [MIM:614621]: An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti361 – 3611W → C in UVSS2. 1 Publication
    Corresponds to variant rs281875221 [ dbSNP | Ensembl ].
    VAR_068177

    Keywords - Diseasei

    Cockayne syndrome, Deafness, Disease mutation, Dwarfism

    Organism-specific databases

    MIMi216400. phenotype.
    614621. phenotype.
    Orphaneti90321. Cockayne syndrome type 1.
    90322. Cockayne syndrome type 2.
    90324. Cockayne syndrome type 3.
    178338. UV-sensitive syndrome.
    PharmGKBiPA27853.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 396396DNA excision repair protein ERCC-8PRO_0000050970Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei390 – 3901Phosphoserine1 Publication
    Modified residuei391 – 3911Phosphoserine1 Publication
    Modified residuei392 – 3921Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ13216.
    PaxDbiQ13216.
    PRIDEiQ13216.

    PTM databases

    PhosphoSiteiQ13216.

    Expressioni

    Gene expression databases

    ArrayExpressiQ13216.
    BgeeiQ13216.
    CleanExiHS_ERCC8.
    GenevestigatoriQ13216.

    Interactioni

    Subunit structurei

    Part of the CSA complex (DCX(ERCC8) complex), a DCX E3 ubiquitin-protein ligase complex containing ERCC8, RBX1, DDB1 and CUL4A; the CSA complex interacts with RNA polymerase II; upon UV irradiation it interacts with the COP9 signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II. Interacts with ERCC6 and KIAA1530/UVSSA. Interacts with a subunit of RNA polymerase II TFIIH. Interacts with DDB1.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ERCC6Q034682EBI-596556,EBI-295284
    XAB2Q9HCS73EBI-295260,EBI-295232

    Protein-protein interaction databases

    BioGridi107581. 35 interactions.
    DIPiDIP-291N.
    IntActiQ13216. 9 interactions.
    MINTiMINT-1417899.
    STRINGi9606.ENSP00000265038.

    Structurei

    Secondary structure

    1
    396
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi2 – 109
    Helixi15 – 2814
    Beta strandi30 – 323
    Beta strandi36 – 383
    Beta strandi46 – 516
    Turni53 – 553
    Beta strandi58 – 636
    Beta strandi68 – 725
    Beta strandi77 – 804
    Beta strandi82 – 843
    Beta strandi86 – 905
    Beta strandi102 – 1076
    Beta strandi115 – 1195
    Beta strandi122 – 1287
    Turni129 – 1324
    Beta strandi133 – 1397
    Beta strandi144 – 1496
    Beta strandi158 – 17619
    Beta strandi180 – 1823
    Beta strandi189 – 1946
    Beta strandi201 – 2066
    Beta strandi211 – 2155
    Beta strandi223 – 2253
    Turni228 – 2314
    Turni237 – 2393
    Beta strandi248 – 2536
    Beta strandi257 – 2648
    Beta strandi269 – 2735
    Turni274 – 2763
    Beta strandi302 – 3054
    Beta strandi307 – 3126
    Beta strandi315 – 3206
    Turni321 – 3233
    Beta strandi326 – 3305
    Beta strandi337 – 3437
    Turni344 – 3474
    Beta strandi348 – 3536
    Beta strandi358 – 3636

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4A11X-ray3.31B1-396[»]
    ProteinModelPortaliQ13216.
    SMRiQ13216. Positions 1-365.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati41 – 7232WD 1Add
    BLAST
    Repeati97 – 12832WD 2Add
    BLAST
    Repeati184 – 21532WD 3Add
    BLAST
    Repeati243 – 27331WD 4Add
    BLAST
    Repeati332 – 36231WD 5Add
    BLAST

    Sequence similaritiesi

    Contains 5 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOGENOMiHOG000248233.
    HOVERGENiHBG005409.
    InParanoidiQ13216.
    KOiK10570.
    OMAiQELYSGG.
    PhylomeDBiQ13216.
    TreeFamiTF101237.

    Family and domain databases

    Gene3Di2.130.10.10. 1 hit.
    InterProiIPR020472. G-protein_beta_WD-40_rep.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF00400. WD40. 5 hits.
    [Graphical view]
    PRINTSiPR00320. GPROTEINBRPT.
    SMARTiSM00320. WD40. 5 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 1 hit.
    PROSITEiPS00678. WD_REPEATS_1. 2 hits.
    PS50082. WD_REPEATS_2. 5 hits.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q13216-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLGFLSARQT GLEDPLRLRR AESTRRVLGL ELNKDRDVER IHGGGINTLD    50
    IEPVEGRYML SGGSDGVIVL YDLENSSRQS YYTCKAVCSI GRDHPDVHRY 100
    SVETVQWYPH DTGMFTSSSF DKTLKVWDTN TLQTADVFNF EETVYSHHMS 150
    PVSTKHCLVA VGTRGPKVQL CDLKSGSCSH ILQGHRQEIL AVSWSPRYDY 200
    ILATASADSR VKLWDVRRAS GCLITLDQHN GKKSQAVESA NTAHNGKVNG 250
    LCFTSDGLHL LTVGTDNRMR LWNSSNGENT LVNYGKVCNN SKKGLKFTVS 300
    CGCSSEFVFV PYGSTIAVYT VYSGEQITML KGHYKTVDCC VFQSNFQELY 350
    SGSRDCNILA WVPSLYEPVP DDDETTTKSQ LNPAFEDAWS SSDEEG 396
    Length:396
    Mass (Da):44,055
    Last modified:November 1, 1996 - v1
    Checksum:iEC962D56226D717B
    GO
    Isoform 2 (identifier: Q13216-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         185-205: HRQEILAVSWSPRYDYILATA → IFILFQTATTLSKRFNKKKRY
         206-396: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:205
    Mass (Da):23,182
    Checksum:i6553CE607A392576
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti150 – 1501S → C.
    Corresponds to variant rs167037 [ dbSNP | Ensembl ].
    VAR_053392
    Natural varianti160 – 1601A → T in CSA. 1 Publication
    Corresponds to variant rs281875222 [ dbSNP | Ensembl ].
    VAR_063507
    Natural varianti160 – 1601A → V in CSA. 1 Publication
    Corresponds to variant rs121434325 [ dbSNP | Ensembl ].
    VAR_025380
    Natural varianti194 – 1941W → C in CSA. 1 Publication
    Corresponds to variant rs281875223 [ dbSNP | Ensembl ].
    VAR_063508
    Natural varianti200 – 2001Y → C.1 Publication
    Corresponds to variant rs4647105 [ dbSNP | Ensembl ].
    VAR_016319
    Natural varianti202 – 2021L → S in CSA. 1 Publication
    Corresponds to variant rs281875224 [ dbSNP | Ensembl ].
    VAR_063509
    Natural varianti205 – 2051A → P in CSA. 1 Publication
    Corresponds to variant rs121434326 [ dbSNP | Ensembl ].
    VAR_025381
    Natural varianti266 – 2661D → G in CSA. 1 Publication
    Corresponds to variant rs281875225 [ dbSNP | Ensembl ].
    VAR_063510
    Natural varianti361 – 3611W → C in UVSS2. 1 Publication
    Corresponds to variant rs281875221 [ dbSNP | Ensembl ].
    VAR_068177

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei185 – 20521HRQEI…ILATA → IFILFQTATTLSKRFNKKKR Y in isoform 2. 1 PublicationVSP_013914Add
    BLAST
    Alternative sequencei206 – 396191Missing in isoform 2. 1 PublicationVSP_013915Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U28413 mRNA. Translation: AAA82605.1.
    CR536563 mRNA. Translation: CAG38800.1.
    BT020021 mRNA. Translation: AAV38824.1.
    AY213194 Genomic DNA. Translation: AAO21128.1.
    AK314511 mRNA. Translation: BAG37111.1.
    CH471123 Genomic DNA. Translation: EAW55004.1.
    BC009793 mRNA. Translation: AAH09793.1.
    CCDSiCCDS3978.1. [Q13216-1]
    PIRiA57090.
    RefSeqiNP_000073.1. NM_000082.3. [Q13216-1]
    NP_001007235.1. NM_001007234.2. [Q13216-2]
    UniGeneiHs.435237.

    Genome annotation databases

    EnsembliENST00000265038; ENSP00000265038; ENSG00000049167. [Q13216-1]
    GeneIDi1161.
    KEGGihsa:1161.
    UCSCiuc003jsl.3. human. [Q13216-1]
    uc003jsn.3. human. [Q13216-2]

    Polymorphism databases

    DMDMi3121917.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Allelic variations of the XP genes
    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPs
    Mendelian genes excision repair cross-complementing rodent repair deficiency, complementation group 8 (ERCC8)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U28413 mRNA. Translation: AAA82605.1 .
    CR536563 mRNA. Translation: CAG38800.1 .
    BT020021 mRNA. Translation: AAV38824.1 .
    AY213194 Genomic DNA. Translation: AAO21128.1 .
    AK314511 mRNA. Translation: BAG37111.1 .
    CH471123 Genomic DNA. Translation: EAW55004.1 .
    BC009793 mRNA. Translation: AAH09793.1 .
    CCDSi CCDS3978.1. [Q13216-1 ]
    PIRi A57090.
    RefSeqi NP_000073.1. NM_000082.3. [Q13216-1 ]
    NP_001007235.1. NM_001007234.2. [Q13216-2 ]
    UniGenei Hs.435237.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4A11 X-ray 3.31 B 1-396 [» ]
    ProteinModelPortali Q13216.
    SMRi Q13216. Positions 1-365.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107581. 35 interactions.
    DIPi DIP-291N.
    IntActi Q13216. 9 interactions.
    MINTi MINT-1417899.
    STRINGi 9606.ENSP00000265038.

    PTM databases

    PhosphoSitei Q13216.

    Polymorphism databases

    DMDMi 3121917.

    Proteomic databases

    MaxQBi Q13216.
    PaxDbi Q13216.
    PRIDEi Q13216.

    Protocols and materials databases

    DNASUi 1161.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265038 ; ENSP00000265038 ; ENSG00000049167 . [Q13216-1 ]
    GeneIDi 1161.
    KEGGi hsa:1161.
    UCSCi uc003jsl.3. human. [Q13216-1 ]
    uc003jsn.3. human. [Q13216-2 ]

    Organism-specific databases

    CTDi 1161.
    GeneCardsi GC05M060169.
    GeneReviewsi ERCC8.
    H-InvDB HIX0004887.
    HGNCi HGNC:3439. ERCC8.
    MIMi 216400. phenotype.
    609412. gene.
    614621. phenotype.
    neXtProti NX_Q13216.
    Orphaneti 90321. Cockayne syndrome type 1.
    90322. Cockayne syndrome type 2.
    90324. Cockayne syndrome type 3.
    178338. UV-sensitive syndrome.
    PharmGKBi PA27853.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2319.
    HOGENOMi HOG000248233.
    HOVERGENi HBG005409.
    InParanoidi Q13216.
    KOi K10570.
    OMAi QELYSGG.
    PhylomeDBi Q13216.
    TreeFami TF101237.

    Enzyme and pathway databases

    UniPathwayi UPA00143 .
    Reactomei REACT_1941. Formation of transcription-coupled NER (TC-NER) repair complex.
    REACT_2222. Dual incision reaction in TC-NER.
    SignaLinki Q13216.

    Miscellaneous databases

    GeneWikii ERCC8_(gene).
    GenomeRNAii 1161.
    NextBioi 4822.
    PROi Q13216.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13216.
    Bgeei Q13216.
    CleanExi HS_ERCC8.
    Genevestigatori Q13216.

    Family and domain databases

    Gene3Di 2.130.10.10. 1 hit.
    InterProi IPR020472. G-protein_beta_WD-40_rep.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF00400. WD40. 5 hits.
    [Graphical view ]
    PRINTSi PR00320. GPROTEINBRPT.
    SMARTi SM00320. WD40. 5 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 1 hit.
    PROSITEi PS00678. WD_REPEATS_1. 2 hits.
    PS50082. WD_REPEATS_2. 5 hits.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH."
      Henning K.A., Li L., Iyer N., McDaniel L.D., Reagan M.S., Legerski R., Schultz R.A., Stefanini M., Lehmann A.R., Mayne L.V., Friedberg E.C.
      Cell 82:555-564(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. NIEHS SNPs program
      Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT CYS-200.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Uterus.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Urinary bladder.
    8. "The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage."
      Groisman R., Polanowska J., Kuraoka I., Sawada J., Saijo M., Drapkin R., Kisselev A.F., Tanaka K., Nakatani Y.
      Cell 113:357-367(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DDB1, IDENTIFICATION IN THE CSA COMPLEX WITH RBX1; DDB1 AND CUL4A, INTERACTION OF THE CSA COMPLEX WITH RNA POLYMERASE II AND THE COP9 SIGNALOSOME.
    9. "CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome."
      Groisman R., Kuraoka I., Chevallier O., Gaye N., Magnaldo T., Tanaka K., Kisselev A.F., Harel-Bellan A., Nakatani Y.
      Genes Dev. 20:1429-1434(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ERCC6, FUNCTION AS SUBSTRATE-RECOGNITION COMPONENT OF THE CSA COMPLEX.
    10. "Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo."
      Fousteri M., Vermeulen W., van Zeeland A.A., Mullenders L.H.
      Mol. Cell 23:471-482(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    11. "Molecular architecture and assembly of the DDB1-CUL4A ubiquitin ligase machinery."
      Angers S., Li T., Yi X., MacCoss M.J., Moon R.T., Zheng N.
      Nature 443:590-593(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    12. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-390; SER-391 AND SER-392, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. "Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair."
      Zhang X., Horibata K., Saijo M., Ishigami C., Ukai A., Kanno S.I., Tahara H., Neilan E.G., Honma M., Nohmi T., Yasui A., Tanaka K.
      Nat. Genet. 44:593-597(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH UVSSA.
    14. "CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism."
      Cao H., Williams C., Carter M., Hegele R.A.
      J. Hum. Genet. 49:61-63(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CSA PRO-205.
    15. "Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects."
      Ridley A.J., Colley J., Wynford-Thomas D., Jones C.J.
      J. Hum. Genet. 50:151-154(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CSA VAL-160.
    16. "A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage."
      Nardo T., Oneda R., Spivak G., Vaz B., Mortier L., Thomas P., Orioli D., Laugel V., Stary A., Hanawalt P.C., Sarasin A., Stefanini M.
      Proc. Natl. Acad. Sci. U.S.A. 106:6209-6214(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT UVSS2 CYS-361.
    17. Cited for: VARIANTS CSA THR-160; CYS-194; SER-202 AND GLY-266.

    Entry informationi

    Entry nameiERCC8_HUMAN
    AccessioniPrimary (citable) accession number: Q13216
    Secondary accession number(s): B2RB64, Q6FHX5, Q96GB9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 144 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3